A boy presenting with familial short stature--diagnosis Gitelman syndrome

J Pediatr Endocrinol Metab. 1999 Nov-Dec;12(6):891-4. doi: 10.1515/jpem.1999.12.6.891.

Abstract

Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. We present a short statured boy with a clear history of familial short stature, normal growth and a final height prognosis within the target height range. However, routine laboratory studies led to the diagnosis of Gitelman syndrome. If a baseline laboratory analysis had not been performed, this diagnosis would have been missed.

Publication types

  • Case Reports

MeSH terms

  • Body Height / genetics*
  • Child
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Humans
  • Male
  • Syndrome